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Connecting genetic risk to disease endpoints through the human blood plasma proteome

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Locus annotations

Locus 264

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
GOT1 trans Discovery rs11292716 7:94,935,199 A/- 0.19 996 0.447 0.055 1.2×10-15 1.070 3×10-13 2×10-13
GOT1 trans Replication rs62467349 7:94,946,795 G/A 0.08 337 0.247 0.120 0.041 1.020 0.594 0.632
LCMT1 trans Discovery rs11292716 7:94,935,199 A/- 0.19 996 0.432 0.054 5.1×10-15 1.030 0.002 0.809
LCMT1 trans Replication rs62467349 7:94,946,795 G/A 0.08 337 0.229 0.104 0.029 1.040 0.239 0.756

 

Regional association plots

Aspartate aminotransferase, cytoplasmic (GOT1)

Download the association data used to generate this plot

Leucine carboxyl methyltransferase 1 (LCMT1)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Aspartate aminotransferase, cytoplasmic (GOT1)

inverse-normalized probe levels log2 transformed probe levels raw probe levels
Discovery study
Replication study

Leucine carboxyl methyltransferase 1 (LCMT1)

inverse-normalized probe levels log2 transformed probe levels raw probe levels
Discovery study
Replication study

Aspartate aminotransferase, cytoplasmic (GOT1)

Target (abbrv.) GOT1
Target (full name) Aspartate aminotransferase, cytoplasmic
Somalogic ID (Sequence ID) SL000280 (4912-17_1)
Entrez Gene Symbol GOT1
UniProt ID P17174
UniProt Comment
  • Biosynthesis of L-glutamate from L-aspartate or L-cysteine. Important regulator of levels of glutamate, the major excitatory neurotransmitter of the vertebrate central nervous system. Acts as a scavenger of glutamate in brain neuroprotection. The aspartate aminotransferase activity is involved in hepatic glucose synthesis during development and in adipocyte glyceroneogenesis. Using L-cysteine as substrate, regulates levels of mercaptopyruvate, an important source of hydrogen sulfide. Mercaptopyruvate is converted into H(2)S via the action of 3-mercaptopyruvate sulfurtransferase (3MST). Hydrogen sulfide is an important synaptic modulator and neuroprotectant in the brain.
Wiki Pathways
  • Alanine and aspartate metabolism
  • Glycolysis and Gluconeogenesis
Reactome
  • Amino acid synthesis and interconversion (transamination)
  • Gluconeogenesis
  • Methionine salvage pathway

Leucine carboxyl methyltransferase 1 (LCMT1)

Target (abbrv.) LCMT1
Target (full name) Leucine carboxyl methyltransferase 1
Somalogic ID (Sequence ID) SL011770 (4237-70_3)
Entrez Gene Symbol LCMT1
UniProt ID Q9UIC8
UniProt Comment
  • Methylates the carboxyl group of the C-terminal leucine residue of protein phosphatase 2A catalytic subunits to form alpha-leucine ester residues.

All locus annotations are based on the sentinel SNP (rs11292716).
However, the sentinel SNP is not contained in SNiPA's database (1000 Genomes Project, phase 3 version 5, European population). Thus, no information about linked genes or further functional annotation is available.

 

Results from other genome-wide association studies


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No associations available.

Confirms strong GWAS hits, and adds protein traits.

Two non-replicated trans-pQTLs with Aspartate aminotransferase, cytoplasmic (GOT1) and Leucine carboxyl methyltransferase 1 (LCMT1). Tang et al. [PubMed] report "Clinical and Genetic Association of Serum Paraoxonase and Arylesterase Activities with Cardiovascular Risk" (PON1). This locus associates in our study with GOT1 (Aspartate aminotransferase, cytoplasmic), but not with PON1 levels.

The information gathered here is a result of an attempt to keep track of all interesting information that we encountered while investigating these loci. Please bear in mind that the annotation given here is neither complete nor free of errors, and that all information provided here should be confirmed by additional literature research before being used as a basis for firm conclusions or further experiments.